Incidental Mutation 'R8414:Proser1'
| ID |
652820 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Proser1
|
| Ensembl Gene |
ENSMUSG00000049504 |
| Gene Name |
proline and serine rich 1 |
| Synonyms |
2810046L04Rik |
| MMRRC Submission |
067768-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8414 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
53371216-53389176 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 53385977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 620
(G620R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058577]
|
| AlphaFold |
Q5PRE5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058577
AA Change: G620R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000055253
Gene: ENSMUSG00000049504
AA Change: G620R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4476
|
1 |
63 |
5e-12 |
PFAM |
|
Pfam:DUF4476
|
30 |
121 |
4e-27 |
PFAM |
|
low complexity region
|
227 |
246 |
N/A |
INTRINSIC |
|
low complexity region
|
276 |
297 |
N/A |
INTRINSIC |
|
low complexity region
|
302 |
316 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
331 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
357 |
N/A |
INTRINSIC |
|
low complexity region
|
399 |
412 |
N/A |
INTRINSIC |
|
low complexity region
|
696 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
804 |
N/A |
INTRINSIC |
|
low complexity region
|
806 |
817 |
N/A |
INTRINSIC |
|
low complexity region
|
820 |
834 |
N/A |
INTRINSIC |
|
low complexity region
|
854 |
880 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conserved protein containing proline and serine rich regions. These regions may be important in protein-protein interactions. [provided by RefSeq, Aug 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA467197 |
T |
C |
2: 122,480,237 (GRCm39) |
Y33H |
probably damaging |
Het |
| Abcc10 |
T |
C |
17: 46,623,273 (GRCm39) |
R880G |
probably benign |
Het |
| Abcg2 |
T |
A |
6: 58,646,221 (GRCm39) |
Y246N |
probably benign |
Het |
| Abhd18 |
A |
G |
3: 40,888,061 (GRCm39) |
M302V |
probably benign |
Het |
| Ablim2 |
A |
G |
5: 36,032,235 (GRCm39) |
D568G |
possibly damaging |
Het |
| Alpk2 |
T |
C |
18: 65,440,542 (GRCm39) |
R284G |
possibly damaging |
Het |
| AU021092 |
T |
C |
16: 5,034,649 (GRCm39) |
Y191C |
probably damaging |
Het |
| Bdp1 |
T |
A |
13: 100,200,985 (GRCm39) |
T751S |
probably benign |
Het |
| Brme1 |
A |
T |
8: 84,893,952 (GRCm39) |
E373V |
probably damaging |
Het |
| Ccdc136 |
A |
G |
6: 29,412,929 (GRCm39) |
E438G |
probably damaging |
Het |
| Cul2 |
C |
A |
18: 3,399,912 (GRCm39) |
N15K |
probably benign |
Het |
| Eml2 |
C |
A |
7: 18,913,220 (GRCm39) |
Q73K |
probably damaging |
Het |
| Epha6 |
C |
A |
16: 59,826,030 (GRCm39) |
R588S |
probably damaging |
Het |
| Eppk1 |
C |
T |
15: 75,994,319 (GRCm39) |
R854Q |
probably benign |
Het |
| Fbxw28 |
C |
T |
9: 109,155,604 (GRCm39) |
W389* |
probably null |
Het |
| Fcgbpl1 |
T |
A |
7: 27,842,158 (GRCm39) |
C698S |
probably damaging |
Het |
| Gbp4 |
A |
T |
5: 105,284,703 (GRCm39) |
V62E |
probably benign |
Het |
| Gtf2h1 |
C |
A |
7: 46,464,768 (GRCm39) |
T401K |
possibly damaging |
Het |
| Hif1a |
G |
T |
12: 73,984,428 (GRCm39) |
M294I |
probably benign |
Het |
| Irak2 |
A |
G |
6: 113,663,903 (GRCm39) |
N484S |
probably benign |
Het |
| Kcnj16 |
A |
G |
11: 110,916,441 (GRCm39) |
T368A |
probably benign |
Het |
| Kcnq1 |
G |
A |
7: 142,917,403 (GRCm39) |
G588D |
probably damaging |
Het |
| Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
| Nckap5 |
T |
G |
1: 125,942,357 (GRCm39) |
E1582D |
probably damaging |
Het |
| Nrip3 |
A |
G |
7: 109,362,735 (GRCm39) |
I183T |
possibly damaging |
Het |
| Or10g9 |
T |
A |
9: 39,912,241 (GRCm39) |
H94L |
probably benign |
Het |
| Or4c117 |
A |
G |
2: 88,956,058 (GRCm39) |
F6L |
probably benign |
Het |
| Pcdha2 |
C |
T |
18: 37,074,619 (GRCm39) |
S750L |
probably damaging |
Het |
| Pik3r2 |
T |
C |
8: 71,223,079 (GRCm39) |
Y447C |
probably damaging |
Het |
| Poteg |
T |
C |
8: 27,938,068 (GRCm39) |
Y75H |
probably benign |
Het |
| Prpsap1 |
A |
T |
11: 116,369,439 (GRCm39) |
L164H |
probably damaging |
Het |
| Rfc3 |
A |
T |
5: 151,568,381 (GRCm39) |
V195E |
possibly damaging |
Het |
| Sarm1 |
A |
T |
11: 78,378,794 (GRCm39) |
V417D |
probably damaging |
Het |
| She |
A |
G |
3: 89,739,174 (GRCm39) |
T122A |
probably benign |
Het |
| Spata31e1 |
A |
G |
13: 49,941,273 (GRCm39) |
S56P |
probably damaging |
Het |
| Srpra |
A |
G |
9: 35,126,133 (GRCm39) |
E442G |
probably benign |
Het |
| Sult2a6 |
T |
A |
7: 13,984,357 (GRCm39) |
R124S |
probably damaging |
Het |
| Synm |
T |
C |
7: 67,383,511 (GRCm39) |
T1384A |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,746,544 (GRCm39) |
V1087A |
probably damaging |
Het |
| Ticam1 |
T |
A |
17: 56,578,340 (GRCm39) |
I252L |
probably benign |
Het |
| Trbv31 |
C |
A |
6: 41,534,697 (GRCm39) |
D89Y |
possibly damaging |
Het |
| Trpc7 |
G |
A |
13: 56,970,282 (GRCm39) |
T434I |
probably benign |
Het |
| Tubgcp4 |
T |
A |
2: 121,024,634 (GRCm39) |
I603N |
probably benign |
Het |
| Ugt3a1 |
A |
G |
15: 9,310,669 (GRCm39) |
N317S |
possibly damaging |
Het |
| Vdac1 |
C |
T |
11: 52,267,330 (GRCm39) |
T77I |
possibly damaging |
Het |
| Vmn2r113 |
A |
T |
17: 23,177,753 (GRCm39) |
R846* |
probably null |
Het |
| Zc3h12d |
GCCC |
GCC |
10: 7,715,735 (GRCm39) |
|
probably null |
Het |
| Zranb2 |
G |
T |
3: 157,252,312 (GRCm39) |
R310S |
unknown |
Het |
|
| Other mutations in Proser1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02035:Proser1
|
APN |
3 |
53,386,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02217:Proser1
|
APN |
3 |
53,378,912 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02260:Proser1
|
APN |
3 |
53,386,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02943:Proser1
|
APN |
3 |
53,386,524 (GRCm39) |
missense |
probably damaging |
0.98 |
|
donatello
|
UTSW |
3 |
53,374,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0166:Proser1
|
UTSW |
3 |
53,388,038 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0230:Proser1
|
UTSW |
3 |
53,386,383 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0579:Proser1
|
UTSW |
3 |
53,374,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0599:Proser1
|
UTSW |
3 |
53,386,485 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0616:Proser1
|
UTSW |
3 |
53,382,118 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0622:Proser1
|
UTSW |
3 |
53,385,281 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0629:Proser1
|
UTSW |
3 |
53,386,485 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0707:Proser1
|
UTSW |
3 |
53,386,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1568:Proser1
|
UTSW |
3 |
53,385,180 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1997:Proser1
|
UTSW |
3 |
53,386,292 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2129:Proser1
|
UTSW |
3 |
53,385,366 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2207:Proser1
|
UTSW |
3 |
53,385,812 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2851:Proser1
|
UTSW |
3 |
53,387,966 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4077:Proser1
|
UTSW |
3 |
53,385,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4093:Proser1
|
UTSW |
3 |
53,387,133 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4970:Proser1
|
UTSW |
3 |
53,371,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4988:Proser1
|
UTSW |
3 |
53,387,046 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5611:Proser1
|
UTSW |
3 |
53,386,296 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6090:Proser1
|
UTSW |
3 |
53,386,088 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6146:Proser1
|
UTSW |
3 |
53,385,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6459:Proser1
|
UTSW |
3 |
53,385,750 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6880:Proser1
|
UTSW |
3 |
53,385,260 (GRCm39) |
missense |
probably benign |
|
|
R7308:Proser1
|
UTSW |
3 |
53,386,125 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7456:Proser1
|
UTSW |
3 |
53,385,939 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7787:Proser1
|
UTSW |
3 |
53,380,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7903:Proser1
|
UTSW |
3 |
53,386,503 (GRCm39) |
nonsense |
probably null |
|
|
R8108:Proser1
|
UTSW |
3 |
53,379,509 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8172:Proser1
|
UTSW |
3 |
53,386,272 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8677:Proser1
|
UTSW |
3 |
53,385,122 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9064:Proser1
|
UTSW |
3 |
53,384,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9164:Proser1
|
UTSW |
3 |
53,379,494 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9555:Proser1
|
UTSW |
3 |
53,378,876 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGCTCACTTTTGCACG -3'
(R):5'- TACAGCTGCAGATGTGGTG -3'
Sequencing Primer
(F):5'- TTGCACGGTCCCCATGC -3'
(R):5'- CCGGTAGAGGGAAACTATTAGTC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation